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Sh3tc2 SH3 domain and tetratricopeptide repeats 2 [ Mus musculus (house mouse) ]

Gene ID: 225608, updated on 8-Feb-2024

Summary

Official Symbol
Sh3tc2provided by MGI
Official Full Name
SH3 domain and tetratricopeptide repeats 2provided by MGI
Primary source
MGI:MGI:2444417
See related
Ensembl:ENSMUSG00000045629 AllianceGenome:MGI:2444417
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
D430044G18Rik
Summary
Acts upstream of or within peripheral nervous system myelin maintenance; regulation of ERBB signaling pathway; and regulation of intracellular protein transport. Located in plasma membrane and recycling endosome. Is expressed in several structures, including brain; genitourinary system; submandibular gland; thymus; and trachea. Used to study Charcot-Marie-Tooth disease type 4C. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4C. Orthologous to human SH3TC2 (SH3 domain and tetratricopeptide repeats 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lung adult (RPKM 4.5), bladder adult (RPKM 4.2) and 22 other tissues See more
Orthologs
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Genomic context

See Sh3tc2 in Genome Data Viewer
Location:
18 E1; 18 34.78 cM
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (62086002..62148790)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (61952928..62015719)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_44765 Neighboring gene predicted gene, 35919 Neighboring gene actin binding LIM protein family, member 3 Neighboring gene STARR-positive B cell enhancer ABC_E10996 Neighboring gene predicted gene, 35720 Neighboring gene STARR-seq mESC enhancer starr_44766 Neighboring gene predicted gene, 35778 Neighboring gene predicted gene, 35887

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1) 
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

General protein information

Preferred Names
SH3 domain and tetratricopeptide repeat-containing protein 2
Names
SH3 domain and tetratricopeptide repeats-containing protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_172628.3NP_766216.2  SH3 domain and tetratricopeptide repeat-containing protein 2

    See identical proteins and their annotated locations for NP_766216.2

    Status: VALIDATED

    Source sequence(s)
    AC091677, AC151896
    Consensus CDS
    CCDS37840.1
    UniProtKB/Swiss-Prot
    Q80VA5, Q8BWH2, Q8BXB8, Q8C0G6
    UniProtKB/TrEMBL
    Q3UPD8
    Related
    ENSMUSP00000055094.6, ENSMUST00000051720.6
    Conserved Domains (5) summary
    cd11885
    Location:271325
    SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
    sd00006
    Location:11281155
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:11691198
    TPR_1; Tetratricopeptide repeat
    pfam07653
    Location:180237
    SH3_2; Variant SH3 domain
    pfam13414
    Location:11691235
    TPR_11; TPR repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000084.7 Reference GRCm39 C57BL/6J

    Range
    62086002..62148790
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006525883.4XP_006525946.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X3

    UniProtKB/TrEMBL
    Q3UPD8
    Related
    ENSMUSP00000158542.2, ENSMUST00000235652.2
    Conserved Domains (3) summary
    cd11885
    Location:305359
    SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
    pfam07653
    Location:203260
    SH3_2; Variant SH3 domain
    pfam17874
    Location:837908
    TPR_MalT; MalT-like TPR region
  2. XM_006525881.5XP_006525944.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X1

    UniProtKB/TrEMBL
    Q3UPD8
    Conserved Domains (5) summary
    cd11885
    Location:305359
    SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
    sd00006
    Location:11621189
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:12031232
    TPR_1; Tetratricopeptide repeat
    pfam07653
    Location:203260
    SH3_2; Variant SH3 domain
    pfam17874
    Location:837908
    TPR_MalT; MalT-like TPR region
  3. XM_006525882.5XP_006525945.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X2

    UniProtKB/TrEMBL
    Q3UPD8
    Conserved Domains (4) summary
    cd11885
    Location:235289
    SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
    sd00006
    Location:10921119
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:11331162
    TPR_1; Tetratricopeptide repeat
    pfam07653
    Location:133190
    SH3_2; Variant SH3 domain
  4. XM_006525884.4XP_006525947.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X4

    See identical proteins and their annotated locations for XP_006525947.1

    UniProtKB/TrEMBL
    Q6DFU9
    Conserved Domains (3) summary
    cd11885
    Location:150
    SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
    sd00006
    Location:853880
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:894923
    TPR_1; Tetratricopeptide repeat
  5. XM_006525885.2XP_006525948.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X4

    See identical proteins and their annotated locations for XP_006525948.1

    UniProtKB/TrEMBL
    Q6DFU9
    Related
    ENSMUSP00000158088.2, ENSMUST00000236759.2
    Conserved Domains (3) summary
    cd11885
    Location:150
    SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
    sd00006
    Location:853880
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:894923
    TPR_1; Tetratricopeptide repeat